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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking FGFR1 and Craniofacial Abnormalities in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 4196 RGD objects have been annotated to Craniofacial Abnormalities  (DOID:9008731)
  • 70 papers in RGD have been used to annotate FGFR1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:12514106


    • An association has been curated linking FGFR1 and Craniofacial Abnormalities in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Purushothaman R, etal., Birth Defects Res A Clin Mol Teratol. 2011 Jul;91(7):603-9. doi: 10.1002/bdra.20811. Epub 2011 Apr 28.
  • The annotation has been inferred from sequence orthology with Fgfr1 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 5 additional annotations were made from Purushothaman R, etal., Birth Defects Res A Clin Mol Teratol. 2011 Jul;91(7):603-9. doi: 10.1002/bdra.20811. Epub 2011 Apr 28.
  • 4196 RGD objects have been annotated to Craniofacial Abnormalities  (DOID:9008731)
  • 70 papers in RGD have been used to annotate FGFR1
  • Curation Notes: DNA:missense mutation:exon:p.P250R (mouse)


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